Novel clinical presentation and pax6 mutation in families with congenital aniridia

HIGHLIGHTS

• who: Ruru Guo from the Yat-sen University, China have published the Article: Novel clinical presentation and PAX6 mutation in families with congenital aniridia, in the Journal: (JOURNAL)
• what: The authors report spontaneous anterior lens capsule rupture as novel phenotype of aniridia and three recurrent mutations and one novel mutation of PAX6 in families with aniridia. The authors enrolled four Chinese families with aniridia to explore the genetic defects of congenital aniridia.

SUMMARY

Human PAX6 encodes a 422-amino_acid transcriptional regulatory protein, which consists of two DNA-binding domains (a paired . . .

 



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